Результаты поиска - Georgii-Hemming, Patrik

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  1. 1
    Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

    Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function по Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars

    Опубликовано 2017
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  2. 2
    Mutations in HECW2 are associated with intellectual disability and epilepsy

    Mutations in HECW2 are associated with intellectual disability and epilepsy по Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars

    Опубликовано 2016
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  3. 3
    Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

    Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability по Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii‐Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thuresson, Ann‐Charlotte, Feuk, Lars

    Опубликовано 2017
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  4. 4
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... по Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

    Опубликовано 2019
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